ALLELE AND GENOTYPE FREQUENCY OF THE HAMP GENE IN PATIENTS WITH ANEMIA DUE TO CHRONIC KIDNEY DISEASE ON KIDNEY REPLACEMENT THERAPY WITH HEMODIALYSIS

Introduction:

Anemia is considered a risk factor for morbidity and mortality in chronic kidney disease; generally, it is characterized by being normocytic and normochromic, secondary to low erythropoietin activity due to renal deterioration. Hepcidin is a protein that is synthetized mainly in the liver. Hepcidin mediates the flow of iron in the plasma and extracellular fluid, induces low iron levels, decreases the delivery of cellular iron to the blood plasma, it is regulated by iron overload and the inhibitor of hepcidin erythroferrone after administration of exogenous erythropoietin. Hepcidin is encoded by the HAMP gene with allelic frequency A/A, A/G and G/G with different clinical genotypes related to the serum hepcidin level.

Methods:

Objective: To identify the allelic frequency and genotypes of the HAMP gene in patients with anemia due to chronic kidney disease on kidney replacement therapy with hemodialysis.

Analytical cross-sectional study. 105 patients on hemodialysis therapy were included, of which 92 met the inclusion criteria. The clinical variables that were analyzed in the study were hemoglobin levels, serum iron, transferrin saturation, ferritin, C-reactive protein, serum hepcidin levels, HAMP gene alleles and genotypes. 

Results:

92 patients with chronic kidney disease on kidney replacement therapy with hemodialysis were identified, of which 58 were men (63%) and 44 were women (37%), with an age range between 20 to 70 years with a mean age of 45 years. The average duration on hemodialysis was 5 years with a range between 1 to 10 years. The average hemoglobin was 9.81gr/dl with a range between 6.2 to 15.2, 42 patients (46.5%) were identified in optimal hemoglobin levels according to the KDIGO guidelines and 50 patients were out of target with hemoglobin levels <10gr/dl (54.35%) of which 70 patients (76%) had iron deficiency, represented by the percentage of transferrin saturation; 37 patients with relative deficiency defined as percentage of transferrin saturation <30%, and 33 patients with absolute deficiency defined as percentage of transferrin saturation < 20%. The average ferritin levels were 309.63ng/ml, with high levels of inflammation represented with the ultrasensitive C-reactive protein, with an average of 12.72mg/L. The hepcidin levels in patients were in a range of 39 to 2088 ng/ml with an average of 198 ng/ml. In addition, the alleles and genotypes A/A, A/G and G/G were identified with the following frequency: 72 patients (78%) genotype A/A, 20 patients (22%) genotype A/G and no patients with genotype G/G.

Conclusions:

Anemia due to chronic kidney disease is a risk factor for morbidity and mortality. In our study, we identified that 54.35% of our patients with chronic kidney disease with hemodialysis had anemia, concomitant with iron deficiency. The correction of the factors leading to anemia is of great relevance. The alleles of the HAMP gene and the genotype were also identified, of which the most relevant in this group of patients is A/A followed by A/G, which is why an association of the AA genotype with iron deficiency is probably related.  

I have no potential conflict of interest to disclose.

I did not use generative AI and AI-assisted technologies in the writing process.